genetic-Final.csv

,Disease Name,Gene(s) Involved,Inheritance Pattern,Symptoms,Severity Level,Risk Assessment,Treatment Options,Suggested Medical Tests,Minimum Values for Medical Tests,Emergency Treatment,
,Down Syndrome (Trisomy 21),No specific gene; chromosomal anomaly,N/A,"Developmental delays, characteristic facial features, heart defects",Moderate to Severe,High,"Supportive therapies (speech, occupational, physical therapy), Regular health monitoring,Educational interventions",  Karyotype analysis,Confirmation of Trisomy 21 through karyotyping,N/A,
,Klinefelter Syndrome (XXY),No specific gene; chromosomal anomaly,N/A,"Infertility, breast development, tall stature, learning difficulties",Moderate,Moderate,"Testosterone replacement therapy,Fertility treatments,Educational support",  Karyotype analysis,Confirmation of XXY through karyotyping,N/A,
,Turner Syndrome (X),No specific gene; chromosomal anomaly,N/A,"Short stature, heart defects, infertility, webbed neck",Moderate,Moderate,"Growth hormone therapy,Regular monitoring of heart health,Estrogen replacement therapy",  Karyotype analysis,Confirmation of X0 through karyotyping,N/A,
,Trisomy 18,No specific gene; chromosomal anomaly,N/A,"Severe developmental delays, heart defects, clenched hands",Severe,High,"Supportive care,Palliative care options for severe cases",  Karyotype analysis,Confirmation of Trisomy 18 through karyotyping,N/A,
,Trisomy 13,No specific gene; chromosomal anomaly,N/A,"Severe intellectual disability, heart defects, facial abnormalities",Severe,High,"Supportive care,Palliative care options for severe cases",  Karyotype analysis,Confirmation of Trisomy 13 through karyotyping,N/A,
,Cri du Chat Syndrome,5p deletion (chromosome 5),N/A,"High pitched cry, developmental delays, facial abnormalities",Moderate,Moderate,"Supportive therapies,Speech and physical therapy",  Genetic testing,Identification of deletion on chromosome 5,N/A,
,Huntington's Disease,HTT gene,Autosomal Dominant,"Movement disorders, cognitive decline, psychiatric issues",Severe,High,"Symptomatic management,Supportive therapies",  Genetic testing,Identification of CAG repeats in HTT gene,N/A,
,Galactosemia,GALT gene,Autosomal Recessive,"Jaundice, vomiting, lethargy, developmental delays",Moderate,High,"Elimination of galactose from diet,Calcium and vitamin D supplementation",  Newborn screening,Galactose levels >1 mg/dL,N/A,
,Neurofibromatosis Type 1,NF1 gene,Autosomal Dominant,"Skin changes, tumors, learning disabilities",Moderate,Moderate,"Monitoring for tumors,Surgical intervention for symptomatic tumors",  Clinical diagnosis,N/A,N/A,
,Ataxia telangiectasia,ATM gene,Autosomal Recessive,"Ataxia, telangiectasia, immune deficiencies",Moderate to Severe,High,"Supportive therapies,Regular monitoring for cancers",  Genetic testing,N/A,N/A,
,Alpha 1 Antitrypsin Deficiency,SERPINA1 gene,Autosomal Co Dominant,"Liver disease, lung disease",Moderate to Severe,Moderate,"Avoiding triggers,AAT augmentation therapy",  AAT levels,AAT levels <100 mg/dL,N/A,
,Heart Disease,"Various genes (e.g., MYH7, MYBPC3)",Multifactorial,"Chest pain, shortness of breath, fatigue",Variable,High,"Lifestyle modifications,Medications (e.g., ACE inhibitors),Surgical interventions",  Lipid panel,Total cholesterol <200 mg/dL,N/A,
,Diabetes,"Various genes (e.g., INS)",Multifactorial,"Increased thirst, frequent urination, fatigue",Variable,High,"Lifestyle modifications,Insulin therapy or oral medications",  Blood glucose testing,Fasting blood glucose <126 mg/dL,N/A,
,Cancer,"Various genes (e.g., BRCA1, TP53)",Multifactorial,"Varies by type (pain, weight loss, fatigue)",Variable,High,"Surgery, chemotherapy, radiation therapy,Targeted therapies","  Imaging studies, biopsies",N/A,N/A,
,Alzheimer's Disease,"Various genes (e.g., APOE ε4)",Multifactorial,"Memory loss, cognitive decline, personality changes",Moderate to Severe,High,"Supportive care,Medications (e.g., donepezil)",Cognitive assessments,N/A,N/A,
,Parkinson's Disease,SNCA gene,Multifactorial,"Tremors, stiffness, balance problems",Moderate to Severe,Moderate,"Medications (e.g., levodopa),Physical therapy",Neurological assessment,N/A,N/A,
,Cystic Fibrosis (CF),CFTR,Autosomal Recessive,"Thick mucus in lungs, digestive issues, frequent lung infections, poor nutrient absorption",Severe,High risk of lung infection and malnutrition,"Chest physiotherapy, mucus thinning medications, enzyme supplements, antibiotics","Sweat chloride test, genetic testing",Chloride level >60 mmol/L in sweat,"Oxygen support, airway clearance, antibiotics for lung infections",
,Sickle Cell Disease (SCD),HBB,Autosomal Recessive,"Anemia, pain crises, organ damage, increased infection risk",Severe,"High risk of organ damage, stroke, infections","Pain management, blood transfusions, hydroxyurea, bone marrow transplant","Blood test, hemoglobin electrophoresis",Hemoglobin S >50% in sickle cell test,"IV fluids, oxygen, pain management, blood transfusion",
,Huntington’s Disease,HTT,Autosomal Dominant,"Movement problems, cognitive decline, psychiatric symptoms",Severe,Risk of progressive neurological decline,"Symptom management, speech and physical therapy, medications for symptoms","Genetic testing, neurological exam",Genetic confirmation of HTT mutation,No specific emergency treatment; supportive care,
,Hemophilia,"F8 (Hemophilia A), F9 (Hemophilia B)",X linked Recessive,"Prolonged bleeding, joint bleeding, easy bruising",Moderate to Severe,"High risk of internal bleeding, especially in joints","Clotting factor replacement therapy, gene therapy (in clinical trials)","Blood clotting factor test, genetic testing",Factor VIII or IX activity <1%,"IV clotting factors, antifibrinolytics in severe bleeding",
,Duchenne Muscular Dystrophy (DMD),DMD,X linked Recessive,"Muscle weakness, heart and respiratory muscle involvement",Severe,Progressive muscle degeneration with high mortality risk,"Physical therapy, steroids, cardiac and respiratory support","Creatine kinase (CK) test, muscle biopsy, genetic test",CK >10x normal levels,"Respiratory support, mobility aids for injury prevention",
,Down Syndrome,Trisomy 21,Nondisjunction (Chromosomal),"Developmental delay, intellectual disability, facial features",Moderate,"Higher risk of heart defects, leukemia, Alzheimer’s, thyroid issues","Early intervention programs, speech and physical therapy, heart monitoring",Karyotype analysis,Presence of an extra chromosome 21,Emergency treatment typically not needed; address specific complications,
,Tay Sachs Disease,HEXA,Autosomal Recessive,"Neurological decline, blindness, seizures",Severe,Fatal in early childhood without treatment,"Symptom management, supportive care, seizure management","Blood enzyme test, genetic testing",Low hexosaminidase A enzyme levels,"Seizure management, respiratory support",
,Fragile X Syndrome,FMR1,X linked Dominant,"Intellectual disability, social and behavioral challenges",Moderate,"Increased risk of anxiety, hyperactivity, and autism","Educational support, behavioral therapy, medication for anxiety",Genetic testing,Expanded CGG repeat count >200 in FMR1,Supportive care and behavioral management,
,Marfan Syndrome,FBN1,Autosomal Dominant,"Long limbs, heart issues, joint flexibility",Moderate to Severe,High risk of aortic dissection and eye complications,"Heart monitoring, medications, possible surgery, physical therapy","Echocardiogram, genetic testing",Aorta >4 cm in adults,Surgery for aortic dissection if severe,
,Phenylketonuria (PKU),PAH,Autosomal Recessive,"Intellectual disability if untreated, behavioral issues, seizures",Moderate,High risk of neurological damage without dietary management,"Low phenylalanine diet, regular blood testing for phenylalanine levels",Blood phenylalanine levels,Phenylalanine <6 mg/dL,No emergency treatment; dietary control essential,
,Thalassemia,HBB (various mutations),Autosomal Recessive,"Anemia, fatigue, jaundice, delayed growth",Moderate to Severe,High risk of anemia related complications,"Blood transfusions, iron chelation therapy, possible bone marrow transplant","Complete blood count (CBC), genetic testing",Hemoglobin levels <10 g/dL,Blood transfusions in severe cases,
,Turner Syndrome,Missing/altered X chromosome,Chromosomal,"Short stature, delayed puberty, heart and kidney issues",Moderate,"High risk of heart and kidney problems, osteoporosis","Growth hormone therapy, estrogen replacement, supportive therapies","Karyotype analysis, echocardiogram",Presence of only one X chromosome,"Treat individual symptoms, heart monitoring as needed",
,Wilson’s Disease,ATP7B,Autosomal Recessive,"Liver disease, neurological symptoms (e.g., tremors)",Moderate to Severe,Risk of liver and neurological damage from copper accumulation,"Copper chelation medications, zinc supplements, liver transplant in severe cases",Serum copper and ceruloplasmin tests,Ceruloplasmin <20 mg/dL,Chelation therapy if acute copper toxicity,
,Albinism,"TYR, OCA2, and others",Autosomal Recessive,"Light sensitivity, vision issues, lack of pigmentation",Mild to Moderate,Risk of skin cancer due to lack of melanin and UV sensitivity,"Sun protection, vision aids, low vision therapies","Skin and eye examination, genetic testing",Clinical confirmation of hypopigmentation,No emergency treatment; sun protection critical,
,Prader Willi Syndrome,Genes on Chromosome 15,Paternal Deletion/Imprinting Error,"Chronic hunger, obesity, intellectual disability, behavioral issues",Moderate,Risk of obesity related complications,"Dietary management, growth hormone therapy, behavioral therapy","Genetic testing, hormone level testing",Elevated ghrelin levels,No specific emergency treatment; manage behavioral symptoms,
,Angelman Syndrome,UBE3A on Chromosome 15,Maternal Deletion/Imprinting Error,"Severe intellectual disability, seizures, movement and balance disorder, frequent laughter",Moderate to Severe,Increased risk of seizure and developmental issues,"Anti seizure medications, physical therapy, behavioral therapy","Genetic testing, EEG for seizures",EEG shows abnormal brain wave patterns,"Emergency seizure management, supportive care",
,Hypertension (High Blood Pressure),"Variants in multiple genes can influence hypertension risk, including AGT, AGTR1, REN, CYP11B2",Polygenic (multiple genes involved); influenced by both genetic and environmental factors,"Often asymptomatic; may include headaches, shortness of breath, nosebleeds, and dizziness",Ranges from mild to severe; chronic uncontrolled high blood pressure can lead to complications,"Risk increases with age, lifestyle factors (e.g., high salt diet, obesity), and genetic predisposition","Lifestyle changes (diet, exercise, reduced salt); medications (ACE inhibitors, beta blockers, diuretics)","Blood pressure measurement, lipid profile, kidney function tests, ECG, echocardiogram",Normal BP: <120/80 mmHg; Hypertension: ≥130/80 mmHg according to AHA guidelines,For hypertensive crisis (BP >180/120 mmHg): Immediate medical attention; intravenous medications to rapidly lower BP in a controlled setting,
,Leigh Syndrome,"NDUFV1, SURF1, ATP6, MT ATP6, MT CO1, MT ND1, others (varies by subtype)","Mitochondrial, Autosomal Recessive (depending on the subtype)","Progressive loss of motor skills, muscle weakness, respiratory problems, seizures, developmental delays, poor coordination, vision and hearing problems",High,"High risk of early death due to progressive organ dysfunction (especially heart, liver, and nervous system)","Symptomatic treatment to manage symptoms (e.g., seizure control, respiratory support), Coenzyme Q10 supplementation, vitamin therapy, dietary adjustments (e.g., ketogenic diet)","Genetic testing, MRI of the brain, muscle biopsy, lactate levels, EEG, ophthalmologic evaluation",MRI: Specific patterns of brain damage (brainstem and basal ganglia lesions); Blood lactate > 2.5 mmol/L can indicate mitochondrial dysfunction,"Immediate seizure management (anticonvulsants), respiratory support (ventilation), metabolic stabilization (glucose and electrolyte management)",
,Mitochondrial Myopathies,"Over 200 genes involved (most commonly MT CO1, MT ATP6, NDUFS1, POLG, among others)","Maternal (Mitochondrial inheritance), Autosomal dominant/recessive (depending on the gene)","Muscle weakness, fatigue, exercise intolerance, ptosis (drooping eyelids), heart and liver involvement, ataxia, hearing loss, vision problems",Variable (mild to severe),"Varies by subtype and severity; often progressive with possible involvement of multiple organ systems (muscle, heart, brain)","Symptomatic treatments, Coenzyme Q10 supplementation, Antioxidants, Exercise therapy, Dietary adjustments (e.g., ketogenic diet), Physical therapy","Muscle biopsy, Genetic testing, MRI, ECG, Cardiac and skeletal muscle function tests, Serum lactate, creatine kinase (CK) levels, hearing and vision tests","Serum lactate levels > 2.0 mmol/L, CK levels can be elevated in muscle damage, MRI may show brain involvement in severe cases","Supportive care for acute episodes, oxygen supplementation, management of metabolic crises (e.g., glucose infusion, electrolyte",
,Glycogen Storage Disease (GSD),"Various genes (e.g., G6PC, PYGL, AGL, etc.)",Autosomal recessive,"Hypoglycemia, hepatomegaly, muscle weakness, growth retardation, lactic acidosis",Variable (mild to severe),"Risk of hypoglycemia, liver and muscle damage, possible organ failure","Dietary management (frequent feeding, cornstarch therapy), liver transplant for severe cases","Genetic testing, liver biopsy, muscle biopsy, glucose levels, lactate, serum triglycerides","Glucose levels should be maintained > 70 mg/dL (in children), Lactate > 2.5 mmol/L may indicate metabolic dysfunction","Hypoglycemia management (glucose infusion), respiratory support for metabolic crises",
,Fructose Bisphosphatase Deficiency,FBP1,Autosomal recessive,"Severe hypoglycemia, hepatomegaly, lactic acidosis, seizures, failure to thrive",High,"Risk of life threatening hypoglycemia, liver damage, metabolic crisis","Glucose supplementation, avoid fructose and sucrose in diet, frequent feeding","Genetic testing, liver biopsy, serum glucose, lactate levels, metabolic tests","Glucose levels should be maintained > 70 mg/dL, Serum lactate > 2.5 mmol/L","Emergency glucose infusion, seizure management, respiratory support",
,Metabolism Diseases,"Varies widely (e.g., inborn errors of metabolism, MTHFR, PKU, etc.)","Varies (autosomal dominant, autosomal recessive, X linked)","Varies widely: developmental delays, seizures, hypotonia, failure to thrive, organ dysfunction",Variable,"Risk of neurological impairment, developmental delays, organ failure depending on subtype","Diet management (e.g., low protein, high calorie), enzyme replacement, supplements (e.g., vitamins, amino acids)","Genetic testing, metabolic screening, urine organic acid test, blood tests for enzyme activity, imaging tests","Blood tests for specific markers depending on the disease (e.g., ammonia, phenylalanine)","Metabolic crisis management (glucose, electrolytes, enzyme replacement)",
,Prader Willi Syndrome,"PWS region genes (e.g., SNORD116, SNRPN)",Paternal deletion or uniparental disomy (chromosome 15),"Hypotonia, obesity, developmental delay, hyperphagia, short stature, behavior problems",Moderate to severe,"Risk of obesity, diabetes, developmental delay, behavior issues","Growth hormone therapy, obesity management (dietary control, exercise), behavioral therapy","Genetic testing, hormone testing, MRI, metabolic screening","Growth hormone levels, glucose, insulin resistance markers","Management of obesity and hyperphagia, behavioral interventions, growth hormone therapy",
,Angelman Syndrome,UBE3A,Deletion or mutation of UBE3A gene (paternal chromosome),"Severe developmental delay, speech impairment, ataxia, seizures, happy demeanor",Severe,"Risk of severe developmental delay, seizures, ataxia, mobility issues","Seizure management, speech and physical therapy, behavioral therapy","Genetic testing (UBE3A mutation or deletion), EEG, MRI","EEG abnormalities, respiratory rate, speech function assessment","Seizure management (antiepileptics), physical and speech therapy",
,Rett Syndrome,MECP2,X linked dominant (mostly affects females),"Loss of purposeful hand movements, developmental regression, breathing irregularities, seizures, ataxia",Severe,"Risk of developmental regression, seizures, motor difficulties, respiratory issues","Symptomatic treatment for seizures, physical therapy, occupational therapy","Genetic testing (MECP2 mutation), EEG, MRI, respiratory assessment","EEG abnormalities, respiratory rate, speech function assessment","Seizure management, respiratory support, safety measures to prevent injury",
,Ehlers Danlos Syndrome,"COL1A1, COL3A1, other collagen genes",Autosomal dominant/recessive,"Hyperelastic skin, joint hypermobility, fragile blood vessels, easy bruising, delayed wound healing",Variable,"Risk of vascular rupture, joint dislocations, skin tears","Pain management, physical therapy, joint protection, surgery for vascular complications","Genetic testing (collagen gene mutations), skin biopsy, joint assessment","Joint stability, skin elasticity measurements, blood pressure monitoring","Management of joint dislocations, wound care, vascular protection",
,Charcot Marie Tooth Disease,"PMP22, MPZ, GJB1, others","Autosomal dominant/recessive, X linked","Progressive muscle weakness and atrophy, sensory loss, foot deformities, loss of reflexes",Moderate to severe,"Risk of progressive muscle weakness, atrophy, foot deformities","Physical therapy, occupational therapy, orthopedic devices, surgical intervention for foot deformities","Genetic testing, nerve conduction studies, muscle biopsy, EMG","Nerve conduction velocity, muscle strength assessments","Management of muscle weakness, orthopedic intervention, pain control",
,Ataxia Telangiectasia,ATM,Autosomal recessive,"Progressive ataxia, telangiectasia (dilated blood vessels), immune deficiency, cerebellar atrophy, increased cancer risk",Severe,"Risk of progressive neurological deterioration, immunodeficiency, malignancy","Symptomatic treatment, physiotherapy, immune support (IVIg), cancer surveillance","Genetic testing (ATM mutation), MRI (for cerebellar atrophy), immune function tests, blood tests for cancer markers","MRI may show cerebellar atrophy, Immunoglobulin levels, CBC for lymphocyte count","Infection control (antibiotics, antivirals), supportive care for neurological symptoms",
,Pyruvate Dehydrogenase Complex Deficiency,"PDHA1 (X linked), PDHB (autosomal)","X linked (most common), autosomal (less common)","Lactic acidosis, developmental delay, hypotonia, poor feeding, lethargy, neurological impairment","Severe, especially in early childhood; can lead to death if untreated","High risk of metabolic crises, neurodevelopmental delays","Thiamine supplementation, ketogenic diet, high fat, low carb diets","Blood lactate, pyruvate, cerebrospinal fluid lactate, MRI","Elevated lactate to pyruvate ratio (>25:1), high lactate levels",IV glucose and thiamine infusion during crises,
,Hereditary Fructose Intolerance,ALDOB,Autosomal recessive,"Vomiting, hypoglycemia, lethargy, liver damage, kidney failure, growth retardation after fructose intake","Severe, especially without early diagnosis",High risk of liver and kidney damage if untreated,"Strict avoidance of fructose, sucrose, and sorbitol","Genetic testing for ALDOB mutation, blood glucose, liver enzymes","Elevated liver enzymes (AST, ALT), hypoglycemia","IV glucose for hypoglycemia, symptomatic treatment",
,Mitochondrial Disorders,"Mitochondrial DNA (mtDNA), nuclear DNA (e.g., POLG, OPA1)","Maternal inheritance (mtDNA), autosomal (nuclear DNA mutations)","Muscle weakness, seizures, ataxia, vision loss, heart problems, neurological degeneration, organ failure",Varies widely from mild to life threatening,"High risk for progressive neurological decline, cardiac involvement, multi organ failure","Supportive care, coenzyme Q10, antioxidants, vitamins, exercise therapy","Muscle biopsy, MRI, genetic testing, lactate levels, mitochondrial DNA analysis","Elevated lactate levels, specific genetic mutations","Supportive care for respiratory failure, arrhythmias, or seizures",
,Pyruvate Kinase Deficiency,PKLR,Autosomal recessive,"Hemolytic anemia, jaundice, fatigue, splenomegaly, gallstones",Varies from mild to severe,"High risk of anemia related complications, need for regular monitoring","Blood transfusions, splenectomy, folic acid supplementation","Blood tests, reticulocyte count, PK enzyme activity assay","Low hemoglobin levels, elevated reticulocyte count",Blood transfusion during severe anemia crises,
,Phosphofructokinase Deficiency (Tarui Disease),PFKM,Autosomal recessive,"Muscle pain, cramping, exercise intolerance, hemolysis, fatigue",Mild to moderate,Risk of muscle damage and hemolysis during exercise,"Avoidance of strenuous physical activity, supportive care","Muscle biopsy, serum creatine kinase (CK) levels, genetic testing",Elevated CK levels during exertion,IV fluids and electrolytes during muscle crises,
,Type 1 Diabetes,"Various genetic loci (e.g., HLA DR3, HLA DR4)",Multifactorial (genetic + environmental),"Polyuria, polydipsia, fatigue, weight loss, blurred vision, diabetic ketoacidosis (DKA)",Severe if left untreated; requires lifelong management,"Increased risk of diabetic complications (e.g., retinopathy, nephropathy)","Insulin therapy, blood glucose monitoring, diet, exercise","Blood glucose, HbA1c, C peptide test, autoantibody tests (ICA, GAD65)","Elevated fasting blood glucose (>126 mg/dL), HbA1c > 6.5%","IV insulin for hyperglycemia, IV fluids for DKA",
,Ketone Utilization Defects,"Various genes depending on specific defect (e.g., BCKDHA for branched chain ketoaciduria)",Autosomal recessive,"Vomiting, lethargy, seizures, hypoglycemia, acidosis","Severe in untreated cases, especially during illness or fasting",High risk of metabolic crises and neurological damage,"Special diet (low protein, high carbohydrate), carnitine supplementation","Blood ketones, urine ketones, metabolic panel","Elevated blood lactate, low glucose","IV glucose and fluids, emergency administration of bicarbonate for acidosis",
,Amino Acid Metabolism Disorders,"Various genes depending on specific disorder (e.g., PAH for PKU, BCKD for MSUD)",Autosomal recessive,"Intellectual disability, developmental delay, seizures, poor feeding, lethargy",Varies widely based on disorder and timing of treatment,Risk of irreversible neurological damage without early diagnosis and treatment,"Dietary restrictions, amino acid supplementation, enzyme replacement","Blood amino acid levels, urine organic acids, genetic testing","Elevated phenylalanine (for PKU), elevated branched chain amino acids (for MSUD)",IV fluids and glucose during metabolic crises,
,Urea Cycle Disorders,"CPS1, OTC, ASS1, ASL, others","X linked (OTC), autosomal recessive (others)","Hyperammonemia, vomiting, lethargy, seizures, developmental delay, coma","Severe, especially during neonatal period",High risk of neurological damage and death if untreated,"Low protein diet, ammonia scavengers (e.g., sodium benzoate), dialysis in severe cases","Plasma ammonia levels, liver function tests, genetic testing",Elevated plasma ammonia (>100 µmol/L),"IV sodium benzoate, dialysis for acute ammonia buildup",
,Fatty Acid Oxidation Disorders,"ACADM, ACADVL, LCHAD, MTP, CPT1, CPT2, others","Autosomal recessive, X linked","Hypoglycemia, lethargy, seizures, cardiomyopathy, liver dysfunction, muscle weakness",Varies from mild to severe,"Risk of metabolic crises, especially during fasting or illness","Carnitine supplementation, avoidance of fasting, low fat diet","Blood acylcarnitine profile, urine organic acids","Elevated acylcarnitines in blood, ketonuria","IV glucose, carnitine infusion, and IV fluids",
,Mucopolysaccharidoses (MPS),"Various genes (e.g., IDUA, SGSH, ARSB)","Autosomal recessive (except MPS II, X linked)","Developmental delay, skeletal deformities, heart valve abnormalities, corneal clouding","Severe, progressive, life limiting",High risk of organ damage and neurological impairment,"Enzyme replacement therapy (ERT), hematopoietic stem cell transplantation","Urine glycosaminoglycans, genetic testing","Elevated urinary GAGs, abnormal enzyme activity",Supportive care for organ failure and respiratory issues,
,"Lysosomal Storage Diseases (e.g., Tay Sachs Disease)",HEXA,Autosomal recessive,"Neurodegeneration, developmental regression, seizures, cherry red spot on retina","Severe, usually fatal by age 4",High risk of neurological decline and death in early childhood,"No cure, supportive care, genetic counseling","Genetic testing, enzyme activity assay","Reduced HEXA enzyme activity, genetic mutations",Supportive care for seizures and respiratory support,
,Sphingolipidoses,"Various genes (e.g., GBA for Gaucher, NPC1 for Niemann Pick)",Autosomal recessive,"Hepatosplenomegaly, neurological decline, bone pain, anemia",Varies widely from mild to severe,"Risk of progressive organ damage, neurological decline","Enzyme replacement therapy (ERT), substrate reduction therapy (SRT)","Genetic testing, enzyme activity assay","Reduced enzyme activity, specific genetic mutations","Supportive care, blood transfusions",
,Congenital Disorders of Glycosylation (CDG),"Various genes (e.g., PMM2, MPI)",Autosomal recessive,"Developmental delay, hypotonia, liver dysfunction, cardiac issues","Varies widely, can be severe",High risk of multi system involvement and neurodevelopmental delay,"Supportive care, liver transplant in some cases","Genetic testing, serum transferrin isoforms",Abnormal glycosylation patterns in serum proteins,Supportive care during metabolic crises,
,Disorders of the Pentose Phosphate Pathway,"G6PD, PGLS","X linked, autosomal recessive","Hemolytic anemia, jaundice, fatigue, increased susceptibility to infections",Varies from mild to severe,"Risk of hemolysis with oxidative stress (e.g., infections, certain medications)","Avoidance of oxidative stressors, folic acid supplementation",Blood glucose 6 phosphate dehydrogenase (G6PD) activity,Reduced G6PD activity during oxidative stress,Blood transfusion during hemolytic crises,
,Congenital Adrenal Hyperplasia (CAH),"CYP21A2, CYP11B1, others",Autosomal recessive,"Ambiguous genitalia (in females), early puberty, salt wasting, hyperkalemia","Varies depending on severity, life threatening if untreated","Risk of adrenal crisis, infertility, and virilization",Glucocorticoid and mineralocorticoid replacement,"Serum cortisol, ACTH stimulation test, genetic testing","Low cortisol, elevated ACTH, high potassium in salt wasting form","IV hydrocortisone, saline infusion during adrenal crisis",
,Methylmalonic Acidemia (MMA),"MUT, MMUT, others",Autosomal recessive,"Vomiting, lethargy, failure to thrive, developmental delay, metabolic acidosis","Severe, especially without early diagnosis","High risk of metabolic acidosis, neurological damage","Diet (low protein), vitamin B12 supplementation","Plasma methylmalonic acid, urine organic acids, genetic testing",Elevated methylmalonic acid in blood and urine,IV glucose and bicarbonate during metabolic acidosis,
,Alkaptonuria,HGD,Autosomal recessive,"Dark urine, osteoarthritis, ochronosis (dark pigmentation of cartilage)","Mild to moderate, depends on joint involvement","Risk of joint degeneration, cardiovascular complications","High dose vitamin C, joint replacement therapy","Urine homogentisic acid levels, genetic testing",Elevated homogentisic acid in urine,Symptomatic treatment for joint pain and oxidative stress,
,Bartter Syndrome,"SLC12A1, KCNJ1, others",Autosomal recessive,"Polyuria, polydipsia, hypokalemia, metabolic alkalosis, failure to thrive",Varies from mild to severe,"Risk of kidney damage, dehydration, electrolyte imbalances","Potassium and sodium supplementation, ACE inhibitors","Serum electrolytes (K+, Na+), genetic testing","Low serum potassium, high aldosterone","IV potassium and fluids, ACE inhibitors for hypertension",
,Cystinuria,"SLC3A1, SLC7A9",Autosomal recessive,"Recurrent kidney stones, hematuria, pain, urinary tract infections",Moderate to severe depending on stone formation,Risk of renal damage due to stone formation,"Increased fluid intake, alkalinization of urine, cystine binding drugs","Urinary cystine, genetic testing",Elevated cystine in urine,IV fluids and pain management during stone passage,
,Hyperammonemia Syndromes,"Various genes (e.g., CPS1, OTC, ASS1)","Autosomal recessive, X linked","Vomiting, lethargy, seizures, coma, developmental delay","Severe if untreated, neurological damage",High risk of neurological damage due to ammonia toxicity,"Ammonia scavengers (e.g., sodium benzoate), protein restriction","Plasma ammonia levels, liver function tests, genetic testing",Elevated ammonia (>100 µmol/L),"IV sodium benzoate, dialysis for acute ammonia buildup",
,Zellweger Syndrome (Peroxisomal Disorder),"PEX1, PEX2, others",Autosomal recessive,"Developmental delay, hypotonia, seizures, hepatomegaly, vision and hearing loss","Severe, life limiting, death usually before age 1",High risk of multi organ dysfunction,"Supportive care, physical therapy, dietary management","Genetic testing, serum bile acid levels",Elevated bile acids in serum,Supportive care for respiratory failure and organ dysfunction,
,Wilson’s Disease,ATP7B,Autosomal recessive,"Hepatomegaly, cirrhosis, neurological symptoms (e.g., tremors), psychiatric symptoms","Severe if untreated, can lead to liver failure and neurological decline","High risk of liver failure, kidney dysfunction, neurological symptoms","Chelation therapy (e.g., penicillamine), zinc supplementation","Serum ceruloplasmin, 24 hour urinary copper, slit lamp examination","Low serum ceruloplasmin, elevated urinary copper","IV chelation therapy, liver transplant in severe cases",
,Taurine Deficiency,TAU,Autosomal recessive,"Retinal degeneration, growth delay, cognitive impairment, hearing loss, heart issues","Severe in untreated cases, can affect vision and cognition","High risk of retinal degeneration, heart problems","Taurine supplementation, supportive care","Blood taurine levels, genetic testing",Low taurine levels in blood,Taurine supplementation for retinal and cardiac iss,
,Predominant Phenotype 1,Placeholder Gene,Autosomal Dominant,General phenotype symptoms,Mild,General risk,Supportive care,Genetic testing,Standard range,Not required,
,Phenotype 1,Placeholder Gene,Autosomal Recessive,Varies with phenotype,Moderate,Low risk,Lifestyle modifications,Imaging studies,Standard range,Not required,
,Phenotype 2,Placeholder Gene,X linked,Specific symptoms associated,Moderate,Carrier risk,Symptom specific treatments,Blood testing,Specific value threshold,Urgent if severe,
,Predominant Phenotype 2,Placeholder Gene,Autosomal Dominant,General phenotype symptoms,Severe,Genetic predisposition,Gene therapy,Genetic screening,Case dependent value,Emergency care,
,Moved/Removed Entry,None,N/A,Not applicable,None,None,None,None,Not applicable,Not required,
,Leber's Hereditary Optic Neuropathy,"Mitochondrial DNA mutations (e.g., MT ND1, MT ND4)",Mitochondrial Inheritance,"Sudden vision loss, central vision impairment",Moderate to severe,High risk in maternal lineage,"Supportive therapy, visual aids","Ophthalmologic exam, genetic testing",Presence of mitochondrial mutations,None; supportive care if vision loss,
,Cystic Fibrosis,CFTR gene,Autosomal Recessive,"Respiratory issues, digestive problems, lung infections",Severe,High in carriers if both parents affected,"Medication, physiotherapy, lung transplants","Sweat test, CFTR gene testing",Elevated sweat chloride levels,Emergency treatment for lung infections,
,Diabetes (Type 2),"Multiple genes (e.g., TCF7L2, FTO)",Multifactorial Inheritance,"High blood sugar, frequent urination, fatigue",Mild to severe,"Increased with family history, lifestyle","Lifestyle changes, insulin, medication","Blood glucose test, A1C test",Blood glucose >126 mg/dL,Emergency care for hypoglycemia,
,Leigh Syndrome,"Mitochondrial DNA mutations (e.g., MT ATP6, nuclear genes)",Mitochondrial Inheritance,"Muscle weakness, neurodegeneration, respiratory issues",Severe,Maternal lineage risk,"Supportive care, respiratory support","MRI, genetic testing",Lesions in brainstem/basal ganglia,Respiratory support in acute cases,
,"Cancer (e.g., Breast Cancer)","Multiple genes (e.g., BRCA1, BRCA2)",Multifactorial Inheritance,"Tumor formation, variable symptoms based on cancer type",Moderate to severe,Increased with genetic mutations and lifestyle factors,"Surgery, chemotherapy, radiation therapy","Imaging (e.g., mammogram), genetic testing",BRCA mutation presence,Emergency care for severe complications,